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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:hepatic encephalopathy
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Accession:DOID:13413 term browser browse the term
Definition:A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood. (DO)
Synonyms:exact_synonym: Fulminant Hepatic Failure with Cerebral Edema;   Hepatic Stupor;   Hepatic Stupors;   Hepatocerebral Encephalopathies;   Hepatocerebral Encephalopathy;   Portal Systemic Encephalopathy;   Portal-Systemic Encephalopathies;   Portosystemic Encephalopathies;   hepatic encephalopathies;   portosystemic encephalopathy
 primary_id: MESH:D006501
 xref: GARD:10452;   ICD10CM:K72;   ICD9CM:572.2;   NCI:C79596
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
hepatic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1b ATP-binding cassette, subfamily B (MDR/TAP), member 1B IEP associated with Hypertension, Portal RGD PMID:24382264 RGD:10395388 NCBI chr 4:22,225,123...22,307,577
Ensembl chr 4:22,133,521...22,425,515 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP mRNA,protein:increased expression:brain, liver,serum: RGD PMID:29518527 RGD:14995926 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870 		JBrowse link
G Epor erythropoietin receptor IEP associated with Hypertension, Portal RGD PMID:24382264 RGD:10395388 NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:increased expression:cerebellum RGD PMID:20405262 RGD:10449131 NCBI chr  X:156,274,800...156,293,935
Ensembl chr  X:156,274,800...156,293,926 		JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 IEP
ISO		 mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism		 CTD PMID:15929193, PMID:15929193 RGD:6480237 NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665 		JBrowse link
G Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 IEP
ISO		 mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism		 CTD PMID:15929193, PMID:15929193 RGD:6480237 NCBI chr14:38,631,192...39,112,598
Ensembl chr14:38,643,385...39,112,600 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 IEP
ISO		 mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism		 CTD PMID:15929193, PMID:15929193 RGD:6480237 NCBI chr10:27,090,913...27,179,786
Ensembl chr10:27,092,827...27,179,900 		JBrowse link
G Gc GC, vitamin D binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11510020, PMID:11521994 RGD:5509929 NCBI chr14:20,267,023...20,302,577
Ensembl chr14:20,266,891...20,302,581 		JBrowse link
G Glud1 glutamate dehydrogenase 1 IEP mRNA:decreased expression:brain RGD PMID:2903433 RGD:6484661 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557 		JBrowse link
G Glul glutamate-ammonia ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10564534 NCBI chr13:71,331,052...71,340,207
Ensembl chr13:71,331,052...71,340,229 		JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 IEP protein:decreased expression:hippocampus, synaptosome (rat) RGD PMID:19450629 RGD:4108489 NCBI chr10:42,441,723...42,760,200
Ensembl chr10:42,614,713...42,760,200 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP associated with Hypertension, Portal RGD PMID:24382264 RGD:10395388 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052 		JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP RGD PMID:23670786 RGD:10766445 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456 		JBrowse link
G Insr insulin receptor IEP protein:decreased expression:hippocampus, cerebral cortex (rat) RGD PMID:28505381 RGD:14700777 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414 		JBrowse link
G Lta lymphotoxin alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:9696492 NCBI chr20:4,851,889...4,854,677
Ensembl chr20:4,852,496...4,854,677 		JBrowse link
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9048767, PMID:10206825, PMID:10564534 NCBI chr  X:6,554,698...6,620,722
Ensembl chr  X:6,554,698...6,620,722 		JBrowse link
G Maob monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10564534 NCBI chr  X:6,430,694...6,533,520
Ensembl chr  X:6,430,594...6,533,534 		JBrowse link
G Nos1 nitric oxide synthase 1 IEP
ISO		 protein:increased expression:neocortex
CTD Direct Evidence: marker/mechanism
protein:increased expression:brain		 CTD PMID:10206825, PMID:10564534, PMID:17083474, PMID:19763802 RGD:1642151, RGD:5132590 NCBI chr12:44,214,949...44,405,530
Ensembl chr12:44,213,943...44,520,341 		JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:increased expression:brain RGD PMID:19763802 RGD:5132590 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190 		JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11991257 NCBI chr 1:43,454,803...43,704,948
Ensembl chr 1:43,454,803...43,704,948 		JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224054 NCBI chr11:89,293,547...89,510,948
Ensembl chr11:89,293,696...89,510,871 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 IMP RGD PMID:21575628 RGD:5688266 NCBI chr 3:15,560,685...15,582,339
Ensembl chr 3:15,560,712...15,582,344 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO RGD PMID:30940161 RGD:14995440 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9696492, PMID:16338762 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 		JBrowse link
G Tspo translocator protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10206825, PMID:10564534 NCBI chr 7:124,460,358...124,470,610
Ensembl chr 7:124,460,358...124,470,609 		JBrowse link
combined oxidative phosphorylation deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfm1 G elongation factor, mitochondrial 1 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1
ClinVar Annotator: match by OMIM:609060		 OMIM
ClinVar		 PMID:15537906, PMID:17160893, PMID:21119709, PMID:21986555, PMID:22277967, PMID:24033266, PMID:25741868, PMID:25852744, PMID:28216230, PMID:28492532, PMID:30311386, PMID:32313153 NCBI chr 2:164,601,575...164,646,478
Ensembl chr 2:164,601,586...164,646,439 		JBrowse link
G Mrpl44 mitochondrial ribosomal protein L44 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr 9:85,542,763...85,547,814
Ensembl chr 9:85,542,702...85,548,144 		JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597 		JBrowse link
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr 1:161,922,132...162,035,817
Ensembl chr 1:161,922,141...162,034,700 		JBrowse link
G Vars2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 1 ClinVar PMID:25741868 NCBI chr20:3,588,462...3,599,514
Ensembl chr20:3,588,497...3,599,514 		JBrowse link
mitochondrial DNA depletion syndrome 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfam transcription factor A, mitochondrial ISO ClinVar Annotator: match by OMIM:617156 ClinVar
OMIM		 PMID:27448789 NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151 		JBrowse link
mitochondrial DNA depletion syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dguok deoxyguanosine kinase ISO
IMP		 ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral
ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 3		 OMIM
ClinVar		 PMID:9175742, PMID:11687800, PMID:11983456, PMID:12205643, PMID:12210798, PMID:15887277, PMID:16908739, PMID:17073823, PMID:17452231, PMID:22622127, PMID:23043144, PMID:25131622, PMID:25741868, PMID:26874653, PMID:28492532, PMID:30404003, PMID:31127938 RGD:15039296, RGD:15039214 NCBI chr 4:115,180,433...115,208,061
Ensembl chr 4:115,180,433...115,208,061 		JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISS OMIM:251880 MouseDO NCBI chr 6:26,585,713...26,600,265
Ensembl chr 6:26,587,443...26,599,511 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Mitochondrial DNA-depletion syndrome 3, hepatocerebral ClinVar PMID:17722119 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      hepatic encephalopathy 34
        combined oxidative phosphorylation deficiency 1 5
        hepatic coma 0
        mitochondrial DNA depletion syndrome 15 1
        mitochondrial DNA depletion syndrome 3 3
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      gastrointestinal system disease 4621
        hepatobiliary disease 2494
          liver disease 2402
            Hepatic Insufficiency 138
              Liver Failure 130
                hepatic encephalopathy 34
                  combined oxidative phosphorylation deficiency 1 5
                  hepatic coma 0
                  mitochondrial DNA depletion syndrome 15 1
                  mitochondrial DNA depletion syndrome 3 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.